The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

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Engelhardt K. R., Gertz M. E., Keles S., Schaeffer A. A., Sigmund E. C., Glocker C., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.136, no.2, pp.402-412, 2015 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 136 Issue: 2
• Publication Date: 2015
• Doi Number: 10.1016/j.jaci.2014.12.1945
• Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.402-412
• Hacettepe University Affiliated: Yes

Abstract

Background: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management.